L27P (p.Leu27Pro) variant of IFNGR2 (Interferon gamma receptor 2)
L27P (p.Leu27Pro) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- rs2123339140
- ClinGen CA410115153
- ClinVar RCV002013974
- Ensembl rs2123339140
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.05
- MetaLR 0.20
- MetaSVM -0.95
- PolyPhen-2 0.01
- SIFT 0.10
- EVE 0.25
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available